Osteogenesis imperfecta (OI) is a group of rare inherited disorders of connective tissue with the common feature of excessive fragility of bones. It is caused by mutations in the collagen, type I, alpha 1 and collagen type I alpha 2 genes, which encode the alpha 1 and the alpha 2 chain of type I procollagen, respectively. Molecular genetic studies have detected more than 150 mutations of these genes. Other mutations have been identified in the leucine proline‑enriched proteoglycan 1, cartilage associated protein and peptidyl‑proly lisomerase B genes.
Select your language of interest to view the total content in your interested language
Annals of Medical and Health Sciences Research received 20588 citations as per google scholar report
The Annals of Medical and Health Sciences Research is a bi-monthly multidisciplinary medical journal.